Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
GALNT17_chr7_71127144_71718599	71680266	C C	CTCTCCCT others(828): Show CTCTCCCTTCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTC CTCCCTCTCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCT CTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTGTCTTC CTCCCTCCCTCTCTCCCTTCCTCCCTCTCTCCCTGTCTTCCTCCCTCCCT CTCTCCCTTCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCTCTTC CTCCCTCCCTCTCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCT TCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCC CTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTGTCT TCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTGTCTTCCTCCCTCC CTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCT TCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCC CTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCT TCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCC CTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCTT CCTCCCCTCCCTCTCTCTCTTCCTCCCTCCCTCTCTCCCTTCCTCCTCCC TCTCTCTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTGTCTT CCTCCCTCCCTCTCTCCCTTCCTCCCTCTCTCCCTG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0020 a0001c0002t0002g0020	1	76	0.0132	835	c.150 others(854): Show c.1500+2960_1500+2961insTCTCCCTTCCTCCCTCCCTCCCTGTC TTCCTCCCTCCCTCTCTCCCTTCCTCCCTCTCTCCCTGTCTTCCTCCCTC CCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCC TTCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTC TCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTGTC TTCCTCCCTCCCTCTCTCTCTTCCTCCCTCCCTCTCTCCCTCCCTCTCTC CCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTGTCTTCCTCCC TCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTC CCTTCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCC TCCCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTC CCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCC TCCCTCTCTCCCTTCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTC CCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCC TCCCTCTCTCCCTTCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTC CCTTCCTCCCTCCCTCTCTCCTTCCTCCCCTCCCTCTCTCTCTTCCTCCC TCCCTCTCTCCCTTCCTCCTCCCTCTCTCTCTTCCTCCCTCCCTCTCTCC CTTCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCT CTCTCCCTG	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	9/10			chr7	TogoVar
GAPVD1_chr9_125256826_125372207	125265636	C C	CTCCTGAC others(828): Show CTCCTGACCTCGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCGGGGTTAT AGACCGCACCCAGCTGCATTGTTTCTTAATTGCTCTCTTATTCAGTATGT TGAGGGCCACAAATTTGCTTCTGTCAAAATGAAAGCAAAGGAGCTCTAGA AAGGGGTATTGGTGCTAGAATTAACATTGAATTATCAGTATAACTGATTA GTAATCAAGGAAGTGAAAGCCAAAATAAGTGAAAATGCATCAGATTGAGA TTTCAGATTGATAACAAATCTAATGTTTTTCACATCAGATTGATAAAAAA AATTTTCATGTCTGGGCTGGGTGCAGTGGCTTACGTCTGTAATCCCAGCA CTTTGGGAGGCCGAGATGGGCGGATCACCTGAGGTTATGAGTTCGAGACC AGGCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATAAAAAATTAG CTAGGTGTGGTGGTGCATGTCTGTAATCCCAGCTACTTGGGAGCTTGAGG CAGGAGAATCCCTTGAACCCGGGAGGTGGAGCTTGCGGTGAGCCGAGATC GCGCCACTGCACTCCAGCCGGGGCGACAGAGCCAGACTCCACCTCAAAAA AAATTTTTTTTTTCTTTTCTTTTTTTTTTGAGGCGGAGTCTGGCTCTGTC GCTCCGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAAGCTCTGCC TCCTGGGTTGACACCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACT ACAGGCGCCCGCTGCCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGG CGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATA	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19088.hp2 NA19079.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0315 a0001c0001t0001g0316	2	340	0.0059	835	c.-19 others(854): Show c.-198-3279_-198-3278insGCCTTGGCCTCCCAAAGTGCGGGGTT ATAGACCGCACCCAGCTGCATTGTTTCTTAATTGCTCTCTTATTCAGTAT GTTGAGGGCCACAAATTTGCTTCTGTCAAAATGAAAGCAAAGGAGCTCTA GAAAGGGGTATTGGTGCTAGAATTAACATTGAATTATCAGTATAACTGAT TAGTAATCAAGGAAGTGAAAGCCAAAATAAGTGAAAATGCATCAGATTGA GATTTCAGATTGATAACAAATCTAATGTTTTTCACATCAGATTGATAAAA AAAATTTTCATGTCTGGGCTGGGTGCAGTGGCTTACGTCTGTAATCCCAG CACTTTGGGAGGCCGAGATGGGCGGATCACCTGAGGTTATGAGTTCGAGA CCAGGCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATAAAAAATT AGCTAGGTGTGGTGGTGCATGTCTGTAATCCCAGCTACTTGGGAGCTTGA GGCAGGAGAATCCCTTGAACCCGGGAGGTGGAGCTTGCGGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCGGGGCGACAGAGCCAGACTCCACCTCAAA AAAAATTTTTTTTTTCTTTTCTTTTTTTTTTGAGGCGGAGTCTGGCTCTG TCGCTCCGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAAGCTCTG CCTCCTGGGTTGACACCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGA CTACAGGCGCCCGCTGCCATGCCTGGCTAATTTTTTGTATTTTTAGTAGA GGCGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATATCCTGACCTCGT GATCTGCCC	GAPVD1	ENSG00000165219.23	transcript	ENST00000297933.11	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
HAUS2_chr15_42543838_42574994	42557411	T T	TATATTTT others(828): Show TATATTTTATATATAATATATATTTTATATATATTATATATTTTATATAT ATTATATATTTTATATATAATATATATTTTATATATAATATATATATTTT ATATATAATATATATATTATATATCTTATATATATTATATAAAATATATA ATATATATCTTATATATATCATATATTTTATATAATATATATTTTATATA TATCATATATTTTATATATAATATATATTATATATACATTATATAATATA TATTATATTATATATATTATATATTATATAATATATATTATATATTATAC GTAATATATAATGTATATTATATATAATATATTATGTATATAATGTATAT TATATATAATATACATTATATATAATGTATATTATATATAATATACATTA TATATAATGTATATTACATATAATATACATTGTATATAATGTATATATTA CATATAATATACATTGTATATAATGTATATATTACATATAATATACATTA TATATAATGTATATTATATGTAATATATACATTACATACAATGTATATTA TATGTAATATATACATTACATATAATGTATATTATATGTAATATATACAT TACATATAATGTATATTATATGTAATATATACATTACATATAATGTATAT TATATGTAATATATACATTACATAATGTATATTATATGTAATATATACAT TACATAATATATACATTGTATATAATGTATATTATATATAATATATACAT TGTATATAATGTATATTATATATAATATATACATTGTATATAATGTATAT TATATATAATATATACATTGTATATAATGTATATTA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	1	350	0.0029	835	c.94- others(848): Show c.94-787_94-786insATATTTTATATATAATATATATTTTATATATA TTATATATTTTATATATATTATATATTTTATATATAATATATATTTTATA TATAATATATATATTTTATATATAATATATATATTATATATCTTATATAT ATTATATAAAATATATAATATATATCTTATATATATCATATATTTTATAT AATATATATTTTATATATATCATATATTTTATATATAATATATATTATAT ATACATTATATAATATATATTATATTATATATATTATATATTATATAATA TATATTATATATTATACGTAATATATAATGTATATTATATATAATATATT ATGTATATAATGTATATTATATATAATATACATTATATATAATGTATATT ATATATAATATACATTATATATAATGTATATTACATATAATATACATTGT ATATAATGTATATATTACATATAATATACATTGTATATAATGTATATATT ACATATAATATACATTATATATAATGTATATTATATGTAATATATACATT ACATACAATGTATATTATATGTAATATATACATTACATATAATGTATATT ATATGTAATATATACATTACATATAATGTATATTATATGTAATATATACA TTACATATAATGTATATTATATGTAATATATACATTACATAATGTATATT ATATGTAATATATACATTACATAATATATACATTGTATATAATGTATATT ATATATAATATATACATTGTATATAATGTATATTATATATAATATATACA TTGTATATAATGTATATTATATATAATATATACATTGTATATAATGTATA TTA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5			chr15	TogoVar
HBQ1_chr16_175459_186179	186102	G G	GGGAACAG others(828): Show GGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGC GACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAA CAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAG GGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAA CAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGG AGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACAC GGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGG AACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGG AGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAG CGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGG AACAGCGACACGGGGGAGGAACAGCGACACGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	835	c.49 others(846): Show c.4994_*4995insGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACA CGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGC GACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGG AACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAACAGCGACACGGG GGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGC GACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGG GAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGA CACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGA GGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAACAGCGACACG GGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACA GCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGG A	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		4924		chr16	TogoVar
HDAC4_chr2_239043168_239406020	239124755	T T	TGTTATGT others(828): Show TGTTATGTGATATTCCGGTGTGCCGGCGTGTGGCCACGTTATATGACATT CCGGTGTGCCGGCGTGTGGCCGCGTTATATGACATTCCGGTGTGCCAGCG TGTGGCCGTGTTATATGACATTCCATGTTATGTGACATTCTGGTGTGCTG GCGTGTGGCTACGTTATATGACATTCCACGTTATATGACATTCCGGAGTG CCGGCGTGTGGCCGCATTATATGACATTCTGGTGTGCCGGCGTGTGGCCG CGTTATATGACATTCCACGTTATGTGACATTCCGGTGTGCTGGCGTGCGG CCGCGTTATATGACATTCCACGTTATGTGACATTCCGGTGTGCTGGCGTG TGGCCGCGTTATATGACATTCCACGTTATGTGACATTCCGGTGTGCTGGC GTGCGGCCGCGTTATATGACATTCTGGTGTGCCGGCGTGTGGCCGCGTTA TATGACATTCCATGTTATGTGACATTCCGGTGTGCTGGCGTGTGGCTGCG TTATATGACATTCCATGTTATGTGATATTCCGGTGTGCCGGCGTGTGGCC ACGTTATATGACATTCCGGTGTGCCGGCGTGTGGCCGCGTTATATGACAT TCCGGTGTGCCAGCGTGTGGCCGTGTTATATGACATTCCATGTTATGTGA CATTCTGGTGTGCTGGCGTGTGGCTACGTTATATGACATTCCACGTTATA TGACATTCCGGAGTGCCGGCGTGTGGCCGCATTATATGACATTCTGGTGT GCCGGCGTGTGGCCGCGTTATATGACATTCCACGTTATGTGACATTCCGG TGTGCTGGCGTGCGGCCGCGTTATATGACATTCCAC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0062 a0001c0004t0062	a0001c0004t0062g0075 a0001c0004t0062g0075	1	242	0.0041	835	c.153 others(854): Show c.1533+1700_1533+1701insGTGGAATGTCATATAACGCGGCCGCA CGCCAGCACACCGGAATGTCACATAACGTGGAATGTCATATAACGCGGCC ACACGCCGGCACACCAGAATGTCATATAATGCGGCCACACGCCGGCACTC CGGAATGTCATATAACGTGGAATGTCATATAACGTAGCCACACGCCAGCA CACCAGAATGTCACATAACATGGAATGTCATATAACACGGCCACACGCTG GCACACCGGAATGTCATATAACGCGGCCACACGCCGGCACACCGGAATGT CATATAACGTGGCCACACGCCGGCACACCGGAATATCACATAACATGGAA TGTCATATAACGCAGCCACACGCCAGCACACCGGAATGTCACATAACATG GAATGTCATATAACGCGGCCACACGCCGGCACACCAGAATGTCATATAAC GCGGCCGCACGCCAGCACACCGGAATGTCACATAACGTGGAATGTCATAT AACGCGGCCACACGCCAGCACACCGGAATGTCACATAACGTGGAATGTCA TATAACGCGGCCGCACGCCAGCACACCGGAATGTCACATAACGTGGAATG TCATATAACGCGGCCACACGCCGGCACACCAGAATGTCATATAATGCGGC CACACGCCGGCACTCCGGAATGTCATATAACGTGGAATGTCATATAACGT AGCCACACGCCAGCACACCAGAATGTCACATAACATGGAATGTCATATAA CACGGCCACACGCTGGCACACCGGAATGTCATATAACGCGGCCACACGCC GGCACACCGGAATGTCATATAACGTGGCCACACGCCGGCACACCGGAATA TCACATAAC	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	12/26			chr2	TogoVar
IFFO2_chr1_18899280_18961676	18925853	T T	TGGATGGA others(828): Show TGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGA TGGATGGATGGATGGATTGGTTGGTTGGATGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGTTGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGCTGGATGGATGGATGGA TGGATTGGTTGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGAT GGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGAGGGATGGATTGGTTGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATTGGTTGGATG GATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGA TTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAT TGGTTGGTTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATG GATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGG TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGAT GGATGGATGGATGGATGGATGGATTGGTTGGATGGA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0327 a0001c0001t0003g0327	1	376	0.0027	835	c.666 others(852): Show c.666-4733_666-4732insTCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCAT CCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACC AATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCA ACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCAACCAATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATC CATCCATCCATCCAACCAATCCATCCATCCATCCATCCAACCATCCATCC ATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCCTCCATCCA TCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCAACCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAA CCAATCCATCCATCCATCCATCCAGCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCATCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATCCAACCAACCAATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATC CATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCA TCCATCC	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFNAR1_chr21_33319970_33364864	33322429	T T	TATATATA others(828): Show TATATATATGCAGTATATATATATGAATATATATATGGAATATATATGGA ATATATATATGGAATATATATATGGAATATATATATGGAATATATATATG GAATATATATATGGAATATATATATGGAATATATATATATGTGGAATATA TATATGGAATATATATATGTGGAATATATATATGGAATATATATATGGAA TATATATATATGGAATATATATATGGAATATATACATGGAATATATGTAT ATGGAATATATACATGGAATATATGTATATGGAATATATACATGGAATAT GTGTATATGGAATATATACATGGAATATATGTATATGGAATATATACATG GAATATATATATGGAATATATACATGGAATATATATATGGAATATATACA TGGAATATATATATATGGAATATATACATGGAATATATATATATGGAATA TATACATGGAATATATATATATAGAATATATACATGGAATATATATATGG AATATATACATGGAATATATATATATGGAATATATACATGGAATATATAC ATGGAATATATACATGGAACATATACATGGAATATATACATGGAACATAT ACATGGAATATATATATATGGAACATATACGGAATATATATATGGAATAT ATATACGGAATATATATATATGGAATATATATACGGAATATATATATGGA ATATATATACGGAATATATATATATGGAATATATATACGGAATATATATA TATGGAATATATATACGGAATATATATATGGAATATATATATGGAATATG TATATGGAATATATATATATGGAATATGTATATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0218 a0002c0002t0002g0218	1	323	0.0031	835	c.-26 others(846): Show c.-2627_-2626insATATATATGCAGTATATATATATGAATATATATA TGGAATATATATGGAATATATATATGGAATATATATATGGAATATATATA TGGAATATATATATGGAATATATATATGGAATATATATATGGAATATATA TATATGTGGAATATATATATGGAATATATATATGTGGAATATATATATGG AATATATATATGGAATATATATATATGGAATATATATATGGAATATATAC ATGGAATATATGTATATGGAATATATACATGGAATATATGTATATGGAAT ATATACATGGAATATGTGTATATGGAATATATACATGGAATATATGTATA TGGAATATATACATGGAATATATATATGGAATATATACATGGAATATATA TATGGAATATATACATGGAATATATATATATGGAATATATACATGGAATA TATATATATGGAATATATACATGGAATATATATATATAGAATATATACAT GGAATATATATATGGAATATATACATGGAATATATATATATGGAATATAT ACATGGAATATATACATGGAATATATACATGGAACATATACATGGAATAT ATACATGGAACATATACATGGAATATATATATATGGAACATATACGGAAT ATATATATGGAATATATATACGGAATATATATATATGGAATATATATACG GAATATATATATGGAATATATATACGGAATATATATATATGGAATATATA TACGGAATATATATATATGGAATATATATACGGAATATATATATGGAATA TATATATGGAATATGTATATGGAATATATATATATGGAATATGTATATGG A	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2540		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322909	T T	TACGGAAT others(828): Show TACGGAATATATATACGGAATGTATATACGGAATATATATACGGAATGTA TATACGGAATATATATACGGAATGTATATACGGAATATATATACGGAATG TATATACGGAATATATATATATGGAATGTATATACGGAATATATATATAT GGAATATATATACGGAATATATATATATGGAATATATATACGGAATATAT ATATATGGAATATATATACGGAATATATATATATGGAATATATATACGGA ATATATACATATGGAACATATATATACGGAATATATACATATGGAACATA TATATGGAATATATACATATGGAACATATATATGGAATATATACATATGG AACATATATATGGAATATATACATATGGAACATATATATGGAATATATAC ATATGGAACATATATATGGAATATATACATATGGAACATATATATGGAAT ATATACATATGGAACATATATATGGAATATATACATATGGAACATATATA TGGAATATATACATATGGAACATATATATGGAATATATACATATGGAACA TATATATGGAATATATATATATGGAACATATATATGGAATATATATATAT GGAACATATATATATGGAATATATATATATGGAATATATATATATGGAAT ATATATATATGGAATATATATATATGGAATATATATATATGGAATATATA TATATGGAATATATATATATGGAATATATATATATGGAATATATATATGG AATATATATATATGGAATATATATATGGAATATATATATGGAATATATAT ATATGGAATATATATATATGGAATATATATATATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	323	0.0031	835	c.-21 others(846): Show c.-2147_-2146insACGGAATATATATACGGAATGTATATACGGAATA TATATACGGAATGTATATACGGAATATATATACGGAATGTATATACGGAA TATATATACGGAATGTATATACGGAATATATATATATGGAATGTATATAC GGAATATATATATATGGAATATATATACGGAATATATATATATGGAATAT ATATACGGAATATATATATATGGAATATATATACGGAATATATATATATG GAATATATATACGGAATATATACATATGGAACATATATATACGGAATATA TACATATGGAACATATATATGGAATATATACATATGGAACATATATATGG AATATATACATATGGAACATATATATGGAATATATACATATGGAACATAT ATATGGAATATATACATATGGAACATATATATGGAATATATACATATGGA ACATATATATGGAATATATACATATGGAACATATATATGGAATATATACA TATGGAACATATATATGGAATATATACATATGGAACATATATATGGAATA TATACATATGGAACATATATATGGAATATATATATATGGAACATATATAT GGAATATATATATATGGAACATATATATATGGAATATATATATATGGAAT ATATATATATGGAATATATATATATGGAATATATATATATGGAATATATA TATATGGAATATATATATATGGAATATATATATATGGAATATATATATAT GGAATATATATATGGAATATATATATATGGAATATATATATGGAATATAT ATATGGAATATATATATATGGAATATATATATATGGAATATATATATATG G	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2060		chr21	TogoVar
INPP5A_chr10_132532787_132788480	132775141	A A	AGAGGGGC others(828): Show AGAGGGGCAGAGAGGAGGGGCAGGGAGAGAGGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGA GGAGGGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGG GGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGC AGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGG GAGGAGAGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAG GGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAG AAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGG CAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAG GGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGA GGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGA GAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGG GCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAG AAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGG CAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAG GACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGC AGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0201 a0001c0001t0004g0201	1	204	0.0049	835	c.978 others(852): Show c.978-2521_978-2520insAGAGGAGGGGCAGGGAGAGAGGGGCAGG GAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAG GAGGGGCAGGGAGGAGGGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGG GCAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGA GGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGA GAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGATGGGCAGGGAGG AGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGG GGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGC AGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGG AGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGA GAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAT GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGG CAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGG GGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGC AGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGG ACGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCA GGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGA GGGGCAG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INS_chr11_2154779_2166209	2161748	A A	AGACCCCT others(828): Show AGACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCT GTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCA GACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTG TCCCCAGGACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCAG ACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTG TCCCCAGACCCCTGTCCCCCGGACCCCTGTCCCCAGACCCCTGTCCCCAG ACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCT GTCCCCACACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCA CACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTG TCCCCAGACCCCTGTCCCCACACCCCCGTCCCCACACCCCCGTCCCCACA CCCCCGTCCCCAGACCCCTGTCCCCACACCCCCGTCCCCACACCCCTGTC CCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACC CCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCC CACACCCCTGTCCCCAGACCCCCGTCCCCAGACCCCCGTCCCCACACCCC TGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCA GACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCT GTCCCCACAGCCCTGTCCCCACACCCCTGTCCCCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	376	0.0027	835	c.-59 others(844): Show c.-599_-598insCCGGGGACAGGGGTGTGGGGACAGGGCTGTGGGGAC AGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTC TGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACA GGGGTGTGGGGACGGGGGTCTGGGGACGGGGGTCTGGGGACAGGGGTGTG GGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGG GGTGTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGG GACAGGGGTGTGGGGACGGGGGTGTGGGGACAGGGGTCTGGGGACGGGGG TGTGGGGACGGGGGTGTGGGGACGGGGGTGTGGGGACAGGGGTCTGGGGA CAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTG TGGGGACAGGGGTCCGGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGAC AGGGGTCCGGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGT CTGGGGACAGGGGTCTGGGGACAGGGGTCCGGGGGACAGGGGTCTGGGGA CAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTCTGGGGACAGGGGT CTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTCCTGGGGA CAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTC TGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTCTGGGGAC AGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTC	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		540		chr11	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(828): Show CGCCCCCACAGCCGCCCCCCCCACAGCTGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCC ACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCC CCCACAGCCACCCCCCACAGCCACCCCCCACAGCCGCCCCCCCACAGCCG CCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCGCCCCCCACAGC CGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCACA GCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCA CAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCACAGCCGCCC CCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCACC CCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCC GCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGC CACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCACCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGCCACCCCCCC ACAGCCGCCCCCACAGCCACCCCCACAGCCACCCCCCCACAGCCACCCCC CCACAGCCGCCCCCACAGCCGCCCCCCACAGCCGCCCCCCCACAGCCACC CCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	312	0.0032	835	c.-41 others(850): Show c.-41+629_-41+630insCCCACAGCTGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCC CACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGC CCCCACAGCCACCCCCCACAGCCACCCCCCACAGCCGCCCCCCCACAGCC GCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCGCCCCCCACAG CCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCAC AGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCC ACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCACAGCCGCC CCCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCAC CCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCGCCCCCCCACAGC CGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAG CCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCACCCCCCCA CAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGCCACCCCCC CACAGCCGCCCCCACAGCCACCCCCACAGCCACCCCCCCACAGCCACCCC CCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCGCCCCCCCACAGCCAC CCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGCTGCCCCCACAGCCG CCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KLHDC4_chr16_87702812_87770986	87738864	T T	TCATCCAT others(828): Show TCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCAT CCACCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCAC ACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACAC CAGCACCTCATCCATCCACACACCAGTATCTCATCCATCCACACACCAGC ACCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCT CATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATC CATCCACACACCAGCACCTCATCCACACACCAGCACCTCATCCATCCACA CACCAGCACCTCATCCATCCACACACCAGCACCTCATCCACCCACACACC AGCACCTCATCCATCCACACACCAGCACCTCATCCACACACCAGCACCTC ATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATCC ACCCACACACCAGCACCTCATCCACACACCAGCACCTCATCCATCCACAC ACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCA GCATCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCAC CTCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCA TCCATCCACACACCAGCATCCCATCCATCCACACACCAGCACCTCATCCA TCCACACACCAGTATCTCATCCACACACCAGCACCTCATCCATCCACACA CCAGCACCTCATCCATCCACACACCAGCACCTCATC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0001 a0011c0012t0001	a0011c0012t0001g0145 a0011c0012t0001g0145	1	380	0.0026	835	c.507 others(852): Show c.507-8221_507-8220insGATGAGGTGCTGGTGTGTGGATGGATGA GGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGATACTGG TGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGGGATGCTGGTGTG TGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGG TGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGA TGAGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAG GTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGGTGCTGGT GTGTGGGTGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGT GGATGGATGAGGTGCTGGTGTGTGGATGAGGTGCTGGTGTGTGGATGGAT GAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGG TGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGGTGCTGGTG TGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTG GATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATG GATGAGGTGCTGGTGTGTGGATGGATGAGATACTGGTGTGTGGATGGATG AGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGT GCTGGTGTGTGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGT GTGGGTGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGG ATGGATG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87739071	C C	CCACCCAC others(828): Show CCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCAC CCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCACACAC CAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGC ACCTCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCT CATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATC CACCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCACA CACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACC AGCACCTCATCCATCCACACACCAGCATCTCATCCATCCACACACCAGCA CCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTC ATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCATCCCATCC ATCCACACACCAGCACCTCATCCATCCACACACCAGTATCTCATCCACAC ACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCA GCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCAC CTCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCA TCCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCA TCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCATCCA CACACCAGCACCTCATCCATCCACACACCAGCATCT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0324	1	380	0.0026	835	c.507 others(852): Show c.507-8428_507-8427insAGATGCTGGTGTGTGGATGGATGAGGTG CTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGG TGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTG TGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGG TGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGA TGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAG GTGCTGGTGTGTGGATGAGATACTGGTGTGTGGATGGATGAGGTGCTGGT GTGTGGATGGATGGGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGT GGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGAT GGATGAGGTGCTGGTGTGTGGATGGATGAGATGCTGGTGTGTGGATGGAT GAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGG TGCTGGTGTGTGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTG TGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTG GATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTG GATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATG AGGTGCTGGTGTGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTG GTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGT GTGGGTG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
MICALL2_chr7_1429359_1464470	1446452	G G	GGGGGGAG others(828): Show GGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCG GAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGAGGAGGGAGA GAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGA GAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGA GGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGG GGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGAGGAGGGAGA GAAGGGGGGAGGAGGGGGAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAG AAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGTGAGAGAAGGGGGGAGGAG GGGAAAAGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAG AGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGGAG GAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGG AAGGGGAAAAGGGGGAGGAGGCGGAGCAGTAGGGGGAGGAGAGTGAGGAG GGGAAGGATGGGGAGGAGGGAAAAGAGGAGGAGGGGGAGGAGGAAGAGAA GGAAGGGGAGAAAGAAGAGGAGGAGGAGAGTGGAAAGGGGAGGAGAAGGG TGAGGACAGGGAAGAGGGGGAAAGGAGGGTGAGGAGGAGGGAGAGAAGAG AGAGAAGGAAGAGAAAGAGGGGGAGAGGAGGGTAAGGAGGAGGGAGAGAA GGGAGAGGAGGAACAGGAGGAAGAGGAGGGGGAGGA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	280	0.0036	835	c.641 others(850): Show c.641+260_641+261insTCCTCCCCCTCCTCTTCCTCCTGTTCCTCC TCTCCCTTCTCTCCCTCCTCCTTACCCTCCTCTCCCCCTCTTTCTCTTCC TTCTCTCTCTTCTCTCCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCTG TCCTCACCCTTCTCCTCCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTCC CCTTCCTTCTCTTCCTCCTCCCCCTCCTCCTCTTTTCCCTCCTCCCCATC CTTCCCCTCCTCACTCTCCTCCCCCTACTGCTCCGCCTCCTCCCCCTTTT CCCCTTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTC CGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCC CCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCT TTTCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCTCCCTCTTC ACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTCCCCCTCCTCCC CCCTTCTCTCCCTCCTCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCT CCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCC TCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCA CTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCCC CCCTTCTCTCCCTCCTCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTA CTGCTCCGCCTCCTCCCCTTTTCCCCCTCCTCCCCCCTTCTCTCACTCCT CCCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MYOM2_chr8_2040046_2150456	2086109	T T	TGTGATCT others(828): Show TGTGATCTCTGCGTGGCACCCCACTGTCGTGATCTCTGCGTGGCCCCCCA CTGTTGTGATCTCTGTGTGGCACCCCACAGTCGTGATCTCTTTGTGGCAC CCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTG GCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTCGTGATCTCTG CGTGGCACCCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATC TCTGTGTGGCCCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTCGT GATCTCTTTGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTG TCGTGATCTCTGTGTGGCCCCCCACAGTCGTGATCTCTGTGTGGCCCCCC ACTGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGTGTGGCC CCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGTGT GGCCCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCT GTGTGGCCCCCCACTGTTGTGATCTCTTTGTGGCCCCCCACAGTCGTGAT CTCTTTGTGGCCCCCCACTGTCGTGATCTCTGTGTGGCCCCCCACAGTCG TGATCTCTTTGTGGCCCCCCACAGTCGTGATCTCTGTGTGGCCCCCCACA GTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCACCC CACTGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCTGCGTGGC CCCACTGTCGTGATCTCTGCGTGGCACCCCACAGTC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0246 a0002c0016t0001g0246	1	403	0.0025	835	c.164 others(852): Show c.1644+728_1644+729insGCGTGGCACCCCACTGTCGTGATCTCTG CGTGGCCCCCCACTGTTGTGATCTCTGTGTGGCACCCCACAGTCGTGATC TCTTTGTGGCACCCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGT GATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTG TCGTGATCTCTGCGTGGCACCCCACTGTCGTGATCTCTGCGTGGCCCCCC ACAGTCGTGATCTCTGTGTGGCCCCCCACTGTCGTGATCTCTTTGTGGCC CCCCACTGTCGTGATCTCTTTGTGGCCCCCCACAGTCGTGATCTCTTTGT GGCCCCCCACTGTCGTGATCTCTGTGTGGCCCCCCACAGTCGTGATCTCT GTGTGGCCCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGAT CTCTGTGTGGCCCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTCG TGATCTCTGTGTGGCCCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACT GTCGTGATCTCTGTGTGGCCCCCCACTGTTGTGATCTCTTTGTGGCCCCC CACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGTGTGGC CCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACAGTCGTGATCTCTGTG TGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTC TGCGTGGCACCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGA TCTCTGCGTGGCCCCACTGTCGTGATCTCTGCGTGGCACCCCACAGTCGT GATCTCT	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
NCAPG2_chr7_158626169_158709804	158668072	C C	CCTTACCC others(828): Show CCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCC TCCGCCCTCCTTACCTACCCTCTGGCCCTCCACCCTCTTACCCACTACTG GGTCCCTCCGCCTTCCTTACCGACCCTGGGTCCCTCCGCCCCCCCTTACC CACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCC TCCTTACCTACCCTGTGGCCCTCCACCCGCTTACCCACTACTGGGTCCCT CCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCTACCCT GTGGCCCTCCACCCTCTTACCCACTACTGGGTCCCTCCGCCTTCCTTACC CACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCC TCCTTACCTACCCTGTGGCCCTCCGCCCTCCCTTACCCACTACTGGGTCC CTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACT ACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCC TTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTC CGCCCTCCTTACCTACCCTCTGGCCCTCCACCCTCTTACCCACTACTGGG TCCCTCCGCCTTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCA CTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCT CCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCC TCCGCCCTCCTTACCTACCCTGTGGCCCTCCACCCT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	378	0.0027	835	c.148 others(854): Show c.1480-3323_1480-3322insAGGGTGGAGGGCCACAGGGTAGGTAA GGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTA GTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGG GACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAA GGCGGAGGGACCCAGTAGTGGGTAAGAGGGTGGAGGGCCAGAGGGTAGGT AAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAG TAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGA GGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGG GAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGCCACAGGG TAGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGA CCCAGTAGTGGGTAAGGAAGGCGGAGGGACCCAGTAGTGGGTAAGAGGGT GGAGGGCCACAGGGTAGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAA GGGAGGGCGGAGGGACCCAGTAGTGGGTAAGCGGGTGGAGGGCCACAGGG TAGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGA CCCAGTAGTGGGTAAGGGGGGGCGGAGGGACCCAGGGTCGGTAAGGAAGG CGGAGGGACCCAGTAGTGGGTAAGAGGGTGGAGGGCCAGAGGGTAGGTAA GGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTA GTGGGTAAG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NXN_chr17_794310_984776	952570	A A	AGTCAGAC others(828): Show AGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACAC TGTGGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTAC CACGGACGGTCACACTGTGGGGGGGCTGGGGTCAGACAGACCAAGGTTGG AACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGGGTCAGA GAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGG GGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGAC GGTCACACTGTGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGG CAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGAGAGACCA AGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGG AGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACAC TGTGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACC ACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGACAGACCAAGGTTGG AACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGA GAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGG GGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACG GTCACACTGTGGGGGGGCTGGGGTCAGAGAGACCAAGGTTGGAACCCGGC AGGTACCACGGACGGTCACACTGTGGGGGGGCTGGG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0235 a0001c0004t0001g0235	1	242	0.0041	835	c.360 others(854): Show c.360+26748_360+26749insCCCAGCCCCCCCACAGTGTGACCGTC CGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACCCCAGCCCCCCC ACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTG ACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAA CCTTGGTCTCTCTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTAC CTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCCACAGTGT GACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAG CCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGT CTGTCTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGG GTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCCACAGTGTGACCGTCC GTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCA CAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGA CTCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAA CCTTGGTCTCTCTGACCCCAGCCCCCCCACAGTGTGACCGTCCGTGGTAC CTGCCGGGTTCCAACCTTGGTCTGTCTGACCCCAGCCCCCCCACAGTGTG ACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAGC CCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGT CTGTCTGAC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(828): Show TGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATGGGGAGAGAAGGGGAGG GAGAGAGTGGGAGAGGGGGAGAGAAGGGGAGGGGGAGACAAGGGGGAGAG AAGGGGAGGGGGAGAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAG GGGGAGGGGGAGAGAGGGGGAGAGAAAGGGAGAGGGGGAGAGAAGGGGAG AGAAGGGGAGAGAAGGGGAGAGAAGGGGAGGGGGAGGAGGGGGAGAGGGG GAGAGGTGGAGGAGGGGGAGAGGGGGAGAGGTGGAGGAGGGGGAGGAGGG GGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGGGAG GGGGAGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAG GGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAAGTGGGAAGGG GCAAGAGAGAGGGCGAGAGAGAGGGCGGGTGAGAGAGGGCGAGTGAGAGA GAGAGGGCGAGTGAGAGAGAGAGGGCAGGTGAGAGAGAGGGCGAGAGAAA GAGAGGGTGGGCAAGAGAGAGAGGGCGAGGGCGAGAGAGAGAGAGGGCGA GAGAGAGAGGGCGGGCGAGAGAGAGGGCAGGCGAGAGAGAGGGCGGGTGA GAGAGAGAGAGGGTGGGCAAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGA GAGAGAGGGCGGGCAAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGTGA GAGGGCGAGAGGGAGAGAGAGGGAGAGGGCGAGAGGGAGAGGGAGAGAAA GAGGGAGAGAAAGAGGGAGAGAAAGAGGGAGAGAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0014 a0014	a0014c0082 a0014c0082	a0014c0082t0001 a0014c0082t0001	a0014c0082t0001g0292 a0014c0082t0001g0292	1	308	0.0033	835	c.371 others(852): Show c.3718+654_3718+655insTTTCTCTCCCTCTTTCTCTCCCTCTTTC TCTCCCTCTTTCTCTCCCTCTCCCTCTCGCCCTCTCCCTCTCTCTCCCTC TCGCCCTCTCACTCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTTGCCCGC CCTCTCTCTCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTTGCCCACCCTC TCTCTCTCTCACCCGCCCTCTCTCTCGCCTGCCCTCTCTCTCGCCCGCCC TCTCTCTCTCGCCCTCTCTCTCTCTCGCCCTCGCCCTCTCTCTCTTGCCC ACCCTCTCTTTCTCTCGCCCTCTCTCTCACCTGCCCTCTCTCTCTCACTC GCCCTCTCTCTCTCACTCGCCCTCTCTCACCCGCCCTCTCTCTCGCCCTC TCTCTTGCCCCTTCCCACTTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCC TCCTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCCCC CTCTCCCCCTCCCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCCTCCC CCTCCTCCCCCTCCTCCCCCTCCTCCACCTCTCCCCCTCTCCCCCTCCTC CACCTCTCCCCCTCTCCCCCTCCTCCCCCTCCCCTTCTCTCCCCTTCTCT CCCCTTCTCTCCCCTTCTCTCCCCCTCTCCCTTTCTCTCCCCCTCTCTCC CCCTCCCCCTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCC CTCCCCTTCTCTCCCCCTTGTCTCCCCCTCCCCTTCTCTCCCCCTCTCCC ACTCTCTCCCTCCCCTTCTCTCCCCATCCCCTTCTCTCCCCATCCCCTTC TCTCCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
PPP1R14C_chr6_150138044_150255392	150167969	T T	TCTCTCCT others(828): Show TCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTC CCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCT TCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTC TCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCT CCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCC CTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCT TTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCT CCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCC TTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTC TTCTTCCCTCTTTCTTCCCTTCTCTCCTCCCCTCTTTCTCTCCTCCCCTT TCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCT CCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCC CTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTTCTTCCCTCTTT CTTCCCTTCTCTCCTCCCCTCTTTCTCTCCTCCCCTTTCTCTCCTCCCCC TTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTC CCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTC TCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0234 a0001c0001t0019g0234	1	312	0.0032	835	c.306 others(854): Show c.306+24490_306+24491insCTTTCTCCCCTTCTCTCCTCCCCCTT TCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTC CCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCT TCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTC TCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCC TCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCC CCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCT TTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCT CCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTC CTTCTTCTTCCCTCTTTCTTCCCTTCTCTCCTCCCCTCTTTCTCTCCTCC CCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTT CTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCC TCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTTCTTCCCT CTTTCTTCCCTTCTCTCCTCCCCTCTTTCTCTCCTCCCCTTTCTCTCCTC CCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTT TCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCC CTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTCCTCTCCTTCT CTCCTCCCC	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PRPF31_chr19_54110754_54136713	54133882	T T	TCTCTCTC others(828): Show TCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCC ACCTCCCCTCTCTCTCCCTCCTCTCCACCTCCCTCTCTCTTCCTCCCTCT CCACCTCCCCTCTCTCTCCCTCCCTCCTCCCCTCTCTCTCTCCCTCCCTC TCTCCACCTCCCCTCTCTCTCCCTCCTCTCTCCACCTTCCCTGTCTCCAC CTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCTCTCTCTCCCTCCT CTCTCCACCTCTCTCTCCTCCTCTCTCCACCCCTCTCTCTCCTCCCTCTC CACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTTCCTC CCTCTCCACCTCCCTCTCTCTCTTCCTGCCTCTCCACCTCCCCTCTCTCT CCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTC TCTTCCTCCCTCTCCACCTCCCCTCTCTCCTCCCTCTCCACCTCCCCTCT CTCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCT CTCTCTCCCTCCCTCTCTCCACCTCCCTCTCTCTCCTCCCTCTCCACCTC CCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTC CACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCC TCCCTCTCTCACCTTCCCTGTCTCCACCTCCCTCCCTCTGTCCCTCCCTC TCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCTTCTCTCTC CCTCCCTCTCTCCACCTCCCTCTCTCCTCTCCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	227	0.0044	835	c.24 others(846): Show c.2450_*2451insCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTC TCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCTCTCCACCTCCCTC TCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCCTCCCCTCT CTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCTCTCTCCAC CTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCC CTCTCTCTCCCTCCTCTCTCCACCTCTCTCTCCTCCTCTCTCCACCCCTC TCTCTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTC CCCTCTCTCTTCCTCCCTCTCCACCTCCCTCTCTCTCTTCCTGCCTCTCC ACCTCCCCTCTCTCTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTC TCCACCTCCCCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCTCCCT CTCCACCTCCCCTCTCTCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCC CTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCTCTCTCTC CTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCT CTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACC TCCCCTCTCTCTCCCTCCCTCTCTCACCTTCCCTGTCTCCACCTCCCTCC CTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCA CCTCCCTTCTCTCTCCCTCCCTCTCTCCACCTCCCTCTCTCCTCTCCCTC C	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2170		chr19	TogoVar
PTPRT_chr20_42067756_43194906	43068103	G G	GGAGGGAG others(828): Show GGAGGGAGGAAGGAAGGGGAGGGAGGGGAGGAAGGAAGGGGAGGGAGGGG AGGAAGGAAGGGGAGGGAGGGGAGGAAGGAAGGGGAGGGAGGGGAGGAAG GAAGGACAGAGAGGAGGGAAGGAAGGAAGGGCAGAGACGAGGGAAGGAAG GAAGGGCAGAGAGGAGGGAAGGAAGGGGTGAGAGGAGGGAAGGAAGGGGG GAGAGGAGGGAAGGAAGGGGGAGAGGAGGGAAGGAAGGGGGGAGAGGAGA GAAGGAAGGGGGAGAGGAGGGAAGGAAGGGGGAGAGGAGGGAAGGAAGGG GGGAGAGGAGGGAAGGAAGGGGGGAGAGGAGGGAAGGAAGGGGGAGAGGA GGGAAGGAAGGGGGAGAGGAGGGAAGGAAGTGGGGAGAGGAGGAAAAGAA GGGGGAGAGGAGGAAAGGAAGGTGGGAGAGGAGGAAAGGAAGGGGGGAGA GGAGGAAAGGAAGGGGGGAGAGGAGGAAAGGAAGGGGGGAGAGGAGGAAA GGAAGGGGGGAGAGGAGGGAAGGAAGGGGGAGAGGAGGAAAAGAAGGGGG AGAGGAGGAAAGGAAGGTGGGAGAGGAGGAAAGGAAGGGGGGAGAGGAGG AAAGGAAGGGGGGAGAGGAGGAAAGGAAGGGGGAGAGGGAGGGAGGAAGG GGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGCAAGCAAGCAAAGCTGC TCAGAAGCTAACTTCAGGAAGAAGGGAGGGAAGCTAACTTCAGAAGCTAA CTTCAGGAGGGAGGGAAGGAAGGAAGGGAAGAAGGAGGGAAGGGAGGTAG GAAGGAGGGAGGGAAGGGAGGAAGGGAGGAGGGAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0010 a0002c0001t0010	a0002c0001t0010g0024 a0002c0001t0010g0024	1	62	0.0161	835	c.88+ others(854): Show c.88+121542_88+121543insTTTCCCTCCTCCCTTCCTCCCTTCCC TCCCTCCTTCCTACCTCCCTTCCCTCCTTCTTCCCTTCCTTCCTTCCCTC CCTCCTGAAGTTAGCTTCTGAAGTTAGCTTCCCTCCCTTCTTCCTGAAGT TAGCTTCTGAGCAGCTTTGCTTGCTTGCTTCCTTCCTTCCTTCCTCCCTC CCTCCCTCCCCCTTCCTCCCTCCCTCTCCCCCTTCCTTTCCTCCTCTCCC CCCTTCCTTTCCTCCTCTCCCCCCTTCCTTTCCTCCTCTCCCACCTTCCT TTCCTCCTCTCCCCCTTCTTTTCCTCCTCTCCCCCTTCCTTCCCTCCTCT CCCCCCTTCCTTTCCTCCTCTCCCCCCTTCCTTTCCTCCTCTCCCCCCTT CCTTTCCTCCTCTCCCCCCTTCCTTTCCTCCTCTCCCACCTTCCTTTCCT CCTCTCCCCCTTCTTTTCCTCCTCTCCCCACTTCCTTCCCTCCTCTCCCC CTTCCTTCCCTCCTCTCCCCCTTCCTTCCCTCCTCTCCCCCCTTCCTTCC CTCCTCTCCCCCCTTCCTTCCCTCCTCTCCCCCTTCCTTCCCTCCTCTCC CCCTTCCTTCTCTCCTCTCCCCCCTTCCTTCCCTCCTCTCCCCCTTCCTT CCCTCCTCTCCCCCCTTCCTTCCCTCCTCTCACCCCTTCCTTCCCTCCTC TCTGCCCTTCCTTCCTTCCCTCGTCTCTGCCCTTCCTTCCTTCCCTCCTC TCTGTCCTTCCTTCCTCCCCTCCCTCCCCTTCCTTCCTCCCCTCCCTCCC CTTCCTTCCTCCCCTCCCTCCCCTTCCTTCCTCCCCTCCCTCCCCTTCCT TCCTCCCTC	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
RAB11FIP3_chr16_420649_528011	492457	C C	CCGGGAGA others(828): Show CCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGC CCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCGGGAG ACCCGAGGCCGTCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGC CCTTCCCGGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAG GCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGCCCTCCCCGG GAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAG GGCCCTTCCCGGGGAGACCCGAGGCCGTCCAGGGCCCTCCCGGGAGACCC GAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTT CCCGGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGGAGACCCGAGGC CGTCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGG GAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCA GGGCCCTTCCCGGGGAGACCCGAGGCCGTCCAGAGCCCTCCCCGGGAGAC CCGAGGCCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCC TTCCCGGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGC CGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGCCCTCCCCGGGA GACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGG CCCTTCCCGGGGAGACCCGAGGCCGTCCAGGGCCCT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	295	0.0034	835	c.126 others(854): Show c.1265+3458_1265+3459insGGGAGACCCGAGGCCGCCCAGAGCCC TCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGG CCGCCCAGGGCCCTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTTCCCGG GAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCA GAGCCCTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCG AGGCCGCCCAGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCC CGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGT CCAGGGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGA CCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGAGC CCTTCCCGGGGAGACCCGAGGCCGTCCAGAGCCCTCCCCGGGAGACCCGA GGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCC CGGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCG TCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGA GACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGA GCCCTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAG GCCGCCCAGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCG GGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGTCC AGGGCCCTC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
TECTA_chr11_121096243_121196490	121185845	T T	TAATGAAT others(828): Show TAATGAATGAGTAGGGAAAGCAGATGTTCAGTGCTTAATGAGTAGGGAAA GCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGAAGATGTTCAATGC TTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAG GGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTC AATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATG AGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGA TGTTGAATGCTTAATGAATGAATAGGGAAAGCAGATGTTCAATGCTTAAT GAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAA GCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGC TTAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAA AGCAGATGTTCAGTGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATG CTTAATGAATGAGTAGGGAAAGAAGATGTTCAATGCTTAATGAATGAGTA GGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTT CAATGCTTAATGAATGAGTAGGGAAAGAAGATGTTCAATGCTTAATGAAT GAGTAGGGAAAGCAGATGTTCAATGCTCAATGCTTAATGAATGAGTAGGG AAAGCAGATGTTGAATGCTTAATGAGTAGGGAAAGCAGATGTTCAATGCT TAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0309 a0003c0004t0002g0309	1	348	0.0029	835	c.600 others(854): Show c.6000-1958_6000-1957insGTGCTTAATGAGTAGGGAAAGCAGAT GTTCAATGCTTAATGAATGAGTAGGGAAAGAAGATGTTCAATGCTTAATG AATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAG CAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCT TAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGG GAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGA ATGCTTAATGAATGAATAGGGAAAGCAGATGTTCAATGCTTAATGAATGA GTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGAT GTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATG AGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGA TGTTCAGTGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAAT GAATGAGTAGGGAAAGAAGATGTTCAATGCTTAATGAATGAGTAGGGAAA GCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGC TTAATGAATGAGTAGGGAAAGAAGATGTTCAATGCTTAATGAATGAGTAG GGAAAGCAGATGTTCAATGCTCAATGCTTAATGAATGAGTAGGGAAAGCA GATGTTGAATGCTTAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGA ATGAGTAGGGAAAGCAGATGTTCAATGCTGAATGAATGAGTAGGGAAAGC AGATGTTCA	TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	20/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
TH_chr11_2158929_2176815	2161748	A A	AGACCCCT others(828): Show AGACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCT GTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCA GACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTG TCCCCAGGACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCAG ACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTG TCCCCAGACCCCTGTCCCCCGGACCCCTGTCCCCAGACCCCTGTCCCCAG ACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCT GTCCCCACACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCA CACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTG TCCCCAGACCCCTGTCCCCACACCCCCGTCCCCACACCCCCGTCCCCACA CCCCCGTCCCCAGACCCCTGTCCCCACACCCCCGTCCCCACACCCCTGTC CCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACC CCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCC CACACCCCTGTCCCCAGACCCCCGTCCCCAGACCCCCGTCCCCACACCCC TGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCA GACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCT GTCCCCACAGCCCTGTCCCCACACCCCTGTCCCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0051 a0001c0002t0001g0051	1	388	0.0026	835	c.24 others(846): Show c.2484_*2485insCCGGGGACAGGGGTGTGGGGACAGGGCTGTGGGG ACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGG TCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGA CAGGGGTGTGGGGACGGGGGTCTGGGGACGGGGGTCTGGGGACAGGGGTG TGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACA GGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTG GGGACAGGGGTGTGGGGACGGGGGTGTGGGGACAGGGGTCTGGGGACGGG GGTGTGGGGACGGGGGTGTGGGGACGGGGGTGTGGGGACAGGGGTCTGGG GACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGG TGTGGGGACAGGGGTCCGGGGGACAGGGGTGTGGGGACAGGGGTGTGGGG ACAGGGGTCCGGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGG GTCTGGGGACAGGGGTCTGGGGACAGGGGTCCGGGGGACAGGGGTCTGGG GACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTCTGGGGACAGGG GTCTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTCCTGGG GACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGG TCTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTCTGGGG ACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGT C	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2180		chr11	TogoVar
TTLL8_chr22_50013575_50063298	50028618	G G	GAAGACCC others(828): Show GAAGACCCCCACACACACTCGTAGAGACCCCCATCACACCGTCCTGAAGA CCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCCAC ATACCCTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACCCT CGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACACTCGTAAAG ACCCCCATCACACCGTCCTGAAGACCCCCACACACCCTCGTAAAGACCCC CATCACACCATCCTGAAGACCCACACATACCCTCGTAAAGACCCCCATCA CACCGTCCTGAAGACCCACACATACCCTCGTAAAGACCCCATCACACCGT CCTGAAGACCCACACATACCCTCGTAAAGACCCCATCACACCATCCTAAA GACCCACACATACCCTCGTAAAGACCCCATCACACCATCCTAAAGACCCC CACACACACTCGTAGAGACCCCCATCACACCGTCCTGAAGACCCCACACA CACTCGTAAAGACCCCCGTCATACCATCCTGAAGACCCCACACACCCTCG TAAAGACCCCCATCATACCATCCTAAAGACCCCCACACACACTCGTAAAG ACCCCATCACACCGTCCTAAAGACCCCCACACACCCTCGTGAAGACCCCA TCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACC GTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTAA AGACCCACACACACACTCGTAAAGACCCCATCACACCATCCTGAAGACCC CACATACCCTCGTAAAGACCCCATCACACCATCCTA	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0138 a0001c0015t0001g0138	1	224	0.0045	835	c.225 others(854): Show c.2251+1811_2251+1812insTAGGATGGTGTGATGGGGTCTTTACG AGGGTATGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGTGTGT GTGTGGGTCTTTAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGG TCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAG GACGGTGTGATGGGGTCTTCACGAGGGTGTGTGGGGGTCTTTAGGACGGT GTGATGGGGTCTTTACGAGTGTGTGTGGGGGTCTTTAGGATGGTATGATG GGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTATGACGGGGGTC TTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGGTCTCTACG AGTGTGTGTGGGGGTCTTTAGGATGGTGTGATGGGGTCTTTACGAGGGTA TGTGTGGGTCTTTAGGATGGTGTGATGGGGTCTTTACGAGGGTATGTGTG GGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTATGTGTGGGTCTT CAGGACGGTGTGATGGGGGTCTTTACGAGGGTATGTGTGGGTCTTCAGGA TGGTGTGATGGGGGTCTTTACGAGGGTGTGTGGGGGTCTTCAGGACGGTG TGATGGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGATGGTGTGATGG GGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTT ACGAGGGTATGTGGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGG GTGTGTGGGGTCTTCAGGACGGTGTGATGGGGGTCTCTACGAGTGTGTGT GGGGGTCTT	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TTLL8_chr22_50013575_50063298	50028832	G G	GTCCTGAA others(828): Show GTCCTGAAGACCCCACACACCCTCGTAAAGACCCCCATCACACCGTCCTG AAGACCCCCACACACACTCGTAAAGACCCCATCACACCGTCCTGAAGACC CCCACATACCCTCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCCAC ATACCCTCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCACACACCC TCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAAA GACCCCCATCACACCATCCTGAAGACCCCACACACACTCGTAAAGACCCC CATCACACCGTCCTGAAGACCCCCACATACCCTCGTAAAGACCCCATCAC ACCATCCTGAAGACCCCACACACACTCGTAAAGACCCCCATCACACCGTC CTGAAGACCCCACACACACTCGTAAAGACCCCATCACACCGTCCTGAAGA CCCCACACACCCTCGTAAAGACCCCATCACACCATCCTGAAGACCCCCAC ACACACTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACACT CGTAAAGACCCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAA GACCCCATCACACCGTCCTGAAGACCCCCACATACCCTCGTAAAGACCCC ATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCCATCACA CCGTCCTGAAGACCCCCACATACCCTCGTAAAGACCCCATCACACCATCC TGAAGACCCCACACACACTCGTAAAGACCCCCATCACACCGTCCTGAAGA CCCCCACATACCCTCGTAAAGACCCCCATCACACCA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0016 a0016	a0016c0022 a0016c0022	a0016c0022t0002 a0016c0022t0002	a0016c0022t0002g0189 a0016c0022t0002g0189	1	224	0.0045	835	c.225 others(854): Show c.2251+1597_2251+1598insTGGTGTGATGGGGGTCTTTACGAGGG TATGTGGGGGTCTTCAGGACGGTGTGATGGGGGTCTTTACGAGTGTGTGT GGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGTATGTGGGGGTC TTCAGGACGGTGTGATGGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGG ATGGTGTGATGGGGTCTTTACGAGGGTATGTGGGGGTCTTCAGGACGGTG TGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGG GGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTT ACGAGTGTGTGTGGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGG GTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTG GGGTCTTCAGGACGGTGTGATGGGGGTCTTTACGAGTGTGTGTGGGGTCT TCAGGATGGTGTGATGGGGTCTTTACGAGGGTATGTGGGGGTCTTCAGGA CGGTGTGATGGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGATGGTGT GATGGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGG GTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGGTCTTT ACGAGGGTATGTGGGGGTCTTCAGGACGGTGTGATGGGGGTCTTTACGAG GGTATGTGGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTG TGGGGGTCTTCAGGACGGTGTGATGGGGGTCTTTACGAGGGTGTGTGGGG TCTTCAGGA	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TWIST2_chr2_238843085_238915534	238871147	A A	ACACACAC others(828): Show ACACACACCACACCCCACACACACCACACCCCATACACACCACACCCCAC ACACACCACACACCCCACACACACCACACAAACCACACACCCTACACACC CCACACACACCACACACACACATCACATACCACACACACATCACATACCA CACACAAACCACACACCACACACACACCACACACCCCACACACACATCAC ATACCACACACAAACCACACACCCAACACACACATCACACACCACACACC CCACACACACATCACATACCACACACAAACCACACACCCTACACACACCA CACACCCCACACACACATCACACACCACACACACCACACACACCCCACAC ACACCACACACACACATCACATACCACACACCCGACACACGCCACACACA CACCACACACCCCACGCACACATCACATACCACACACAAACCACACACCC TACACACACCACACACCCCACACACACCACACATACACACCACACACACA TCACATACCACACACAAACCACACACCCCCACACACCCCACACACCCCAC ACACACCACACACCCCACACACACACCACACACCCCACACACACATCACA TACCACACACAAACCACACACCCCACACACCCCACACACCACACACACAC CACACACACATCACATACCACACACAAACCACACACCCTACACGCACCAC ACACCCTACACGCACCACACACCCCACACACACCACACACCCGACACACG CCACACACACACCACACACCCCACGCACACATCACATACCACACACAAAC CACACACCCTACACACCCCACACACCCCACACACAC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	338	0.0030	835	c.35 others(854): Show c.35+22426_*35+22427insCCCACACACACCACACCCCATACACA CCACACCCCACACACACCACACACCCCACACACACCACACAAACCACACA CCCTACACACCCCACACACACCACACACACACATCACATACCACACACAC ATCACATACCACACACAAACCACACACCACACACACACCACACACCCCAC ACACACATCACATACCACACACAAACCACACACCCAACACACACATCACA CACCACACACCCCACACACACATCACATACCACACACAAACCACACACCC TACACACACCACACACCCCACACACACATCACACACCACACACACCACAC ACACCCCACACACACCACACACACACATCACATACCACACACCCGACACA CGCCACACACACACCACACACCCCACGCACACATCACATACCACACACAA ACCACACACCCTACACACACCACACACCCCACACACACCACACATACACA CCACACACACATCACATACCACACACAAACCACACACCCCCACACACCCC ACACACCCCACACACACCACACACCCCACACACACACCACACACCCCACA CACACATCACATACCACACACAAACCACACACCCCACACACCCCACACAC CACACACACACCACACACACATCACATACCACACACAAACCACACACCCT ACACGCACCACACACCCTACACGCACCACACACCCCACACACACCACACA CCCGACACACGCCACACACACACCACACACCCCACGCACACATCACATAC CACACACAAACCACACACCCTACACACCCCACACACCCCACACACACCAC ACACCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TXNDC16_chr14_52425596_52557505	52530465	T T	TAATAATA others(828): Show TAATAATATAATATATATTATTATAATTATATATAATAATATAATATATA TTATTATAATTATATATAATAATATAATATATATTATTATATATTATTAT ATATAATAATATAATATATATTATTATATATTATTATATATAATAATATA TATTATATTATTATATATAATTATATATAATAATATATATTATATTATTA TATATAATTATATATAATAATATAATATATATTATTATATATAATTATAT ATAATAATATAATATATATTATTATATATAATTATATATAATAATATAAT ATATATTATTATATATAATAATAATATATATATATTATTATATATAATTA TATATAATAATATAATATATATTATTATATATAATTATATATAATAATAT AAATATATTATTATATATTATTATATATAATAATATAATATATATTATAT ATTATTATATATAATAATATAATATATATTATATATTATTATATATAATA ATATAATATATATTATTATATATTATTATATATAATAATATAATATATAT TATTATATATAATAATATAATATATATTATTATATATTATTATATATAAT AATATAATATATATTATTATATATAATAATATAATATATATTATTATATA TAATAATATAATATATATTATTATATATTATTATATATAATAATATAATA TATATTATTATATATAATAATATAATATATATTATTATATATTATTATAT ATAATAATATAATATATATTATTATATATTATTATATATAATAATATAAT ATATATTATTATATATTATTATATATAATAATATAA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	238	0.0042	835	c.392 others(852): Show c.392+6253_392+6254insTTATATTATTATATATAATAATATATAA TAATATATATTATATTATTATATATAATAATATATAATAATATATATTAT ATTATTATATATAATAATATATAATAATATATATTATATTATTATATATA ATAATATATATTATATTATTATATATAATAATATATAATAATATATATTA TATTATTATATATAATAATATATATTATATTATTATATATAATAATATAT ATTATATTATTATATATAATAATATATAATAATATATATTATATTATTAT ATATAATAATATATATTATATTATTATATATAATAATATATAATAATATA TATTATATTATTATATATAATAATATATAATATATATTATATTATTATAT ATAATAATATATAATATATATTATATTATTATATATAATAATATATAATA ATATATTTATATTATTATATATAATTATATATAATAATATATATTATATT ATTATATATAATTATATATAATAATATATATATATTATTATTATATATAA TAATATATATTATATTATTATATATAATTATATATAATAATATATATTAT ATTATTATATATAATTATATATAATAATATATATTATATTATTATATATA ATTATATATAATAATATAATATATATTATTATATATAATTATATATAATA ATATAATATATATTATTATATATAATAATATATAATAATATATATTATAT TATTATATATAATAATATATAATAATATATATTATATTATTATATATAAT TATAATAATATATATTATATTATTATATATAATTATAATAATATATATTA TATTATT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
ZBTB34_chr9_126855639_126890878	126876197	T T	TCCCCCTT others(828): Show TCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCTTCCCCCTTCCCCC CTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCC CCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCT TCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCC CCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCC TTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCC CCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCC TTCCCCCTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTTCCCCCTTCC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTT CCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCCC CCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTT CCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCC CCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCT TCTCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCC CCCCTTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCC CCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0108 a0001c0001t0007g0108	1	246	0.0041	835	c.-10 others(852): Show c.-10-3193_-10-3192insCCCCCTTCCCCCCTTTCCCCCTTCCCCC TTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCC CCCTTCCCCCTTCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTC CCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTC CCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCC CTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTT CCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCT CTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT TCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCC CCCTTCCCTCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCC TTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCC TTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTC CCCCTTCCCCCCTTTCCCCCTTCTCCCTTCCCCCCTTTCCCCCTTCCCCC CTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCC TTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCT TTCCCCC	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1			chr9	TogoVar
ZFPM1_chr16_88448280_88542031	88461004	G G	GGACCGAG others(828): Show GGACCGAGGGGCGGGGCGGGAGGCCTGGTGATGACCGAGGGGCGGGGCGG GAGGCCTGGTGAGGACCGAGGGGTGGGGCGGGAGGCCTGGTGAGGACCGA GGGGAGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGGCGGGAGGCCT GGTGATGACCGAGGGGCGGGGCGGGAGGCCTGGTGAGGACCGAGGGGTGG GGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGAGGCCCTGGTGAGGACCC AGGGGCAGAAGGTCTGGTGAGGACCAAGGGGCAGGAGGCCCTGGTGAGGA CCCAGGGATGGGGCGGGAGACCTGGTGAGGACCGAGGGGCGGGAGGCCTG GTGATGACCGAGGGGTGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGG AGGCCTGGTGAGGACCGAGGGGCGGGAGGCCCTGGTGAGGACCCAGGGGC AGAAGGTCTGGTGAGGACCAAGGGGCAGGAGGCCCTGGTGAGGACCCAGG GATGGGGCGGGAGACCTGGTGAGGACCGAGGGGCGGGAGACCTGGTGATG ACCGAGGGGTGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGGCGGGA GGCCTGGTGATGACCGAGGGGCGGGGCGGGAGGCCTGGTGATGACCGAGG GGAGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGAGGCCTGGTGAGG ACCGAGGGGCGGGAGGCCCTGGTGAGGACCCAGGGGCAGAAGGTCTGGTG AGGACCAAGGGGCAGGAGGCCCTGGTGAGGACCCAGGGATGGGGCGGGAG ACCTGGTGAGGACCGAGGGGCGGGAGACCTGGTGAT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0090 a0002c0002t0005g0090	1	318	0.0031	835	c.40+ others(850): Show c.40+7336_40+7337insCGGGGCGGGAGGCCTGGTGATGACCGAGGG GCGGGGCGGGAGGCCTGGTGAGGACCGAGGGGTGGGGCGGGAGGCCTGGT GAGGACCGAGGGGAGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGGC GGGAGGCCTGGTGATGACCGAGGGGCGGGGCGGGAGGCCTGGTGAGGACC GAGGGGTGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGAGGCCCTGG TGAGGACCCAGGGGCAGAAGGTCTGGTGAGGACCAAGGGGCAGGAGGCCC TGGTGAGGACCCAGGGATGGGGCGGGAGACCTGGTGAGGACCGAGGGGCG GGAGGCCTGGTGATGACCGAGGGGTGGGGCGGGAGGCCTGGTGAGGACCG AGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGAGGCCCTGGTGAGGA CCCAGGGGCAGAAGGTCTGGTGAGGACCAAGGGGCAGGAGGCCCTGGTGA GGACCCAGGGATGGGGCGGGAGACCTGGTGAGGACCGAGGGGCGGGAGAC CTGGTGATGACCGAGGGGTGGGGCGGGAGGCCTGGTGAGGACCGAGGGGC GGGGCGGGAGGCCTGGTGATGACCGAGGGGCGGGGCGGGAGGCCTGGTGA TGACCGAGGGGAGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGAGGC CTGGTGAGGACCGAGGGGCGGGAGGCCCTGGTGAGGACCCAGGGGCAGAA GGTCTGGTGAGGACCAAGGGGCAGGAGGCCCTGGTGAGGACCCAGGGATG GGGCGGGAGACCTGGTGAGGACCGAGGGGCGGGAGACCTGGTGATGACCG AGGGG	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(828): Show GTATATATACATGTATATATATACAAGTATATATACATGTATATATATAC AAGTATATATATATACTTGTATATATATATACAAGTATATATATATACTT GTATACATATATACTATATATATACGTATATACACGTATATACGTATATA TATGTATATATACGTATATACATGTATATATACGTATATACACGTATATA CGTATATATACACATATATACATGTATATATACGTATATATACACATATA TACATGTATATATATACGTATATATACACATATATACATGTATATATATA CGTATATATACACATATATACATGTATATATATACGTATATATACACATA TATACATGTATATATACATGTATATATACACATATATACATGCGTATATA TATACGTATATATACATGTATATATATACGTATATATACACATATATACA TGTATATATACGTATATATACACATATATACATGTATATATATACGTATA TATACACATATATACATGTATATATATACGTATATATACACATATATACA TGTATATATATACGTATATATACACATATATACATGTATATATATACGTA TATATACACATATATACATGTATATATATACGTATATATACACATATATA CATGTATATATACATGTATATATACACATATATACATGCGTATATATATA CGTATGTATATATGTATATATACGTATATACATGTATATATATATACGTA TATATACATATATACGTATATATATATACGTATATATACATATATATACA TGTATATATGTGTGTATATATATACGTATATATACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0264 a0002c0002t0003g0264	1	383	0.0026	835	c.-42 others(846): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA CATGTATATATATACAAGTATATATATATACTTGTATATATATATACAAG TATATATATATACTTGTATACATATATACTATATATATACGTATATACAC GTATATACGTATATATATGTATATATACGTATATACATGTATATATACGT ATATACACGTATATACGTATATATACACATATATACATGTATATATACGT ATATATACACATATATACATGTATATATATACGTATATATACACATATAT ACATGTATATATATACGTATATATACACATATATACATGTATATATATAC GTATATATACACATATATACATGTATATATACATGTATATATACACATAT ATACATGCGTATATATATACGTATATATACATGTATATATATACGTATAT ATACACATATATACATGTATATATACGTATATATACACATATATACATGT ATATATATACGTATATATACACATATATACATGTATATATATACGTATAT ATACACATATATACATGTATATATATACGTATATATACACATATATACAT GTATATATATACGTATATATACACATATATACATGTATATATATACGTAT ATATACACATATATACATGTATATATACATGTATATATACACATATATAC ATGCGTATATATATACGTATGTATATATGTATATATACGTATATACATGT ATATATATATACGTATATATACATATATACGTATATATATATACGTATAT ATACATATATATACATGTATATATGTGTGTATATATATACGTATATATAC A	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ARHGAP39_chr8_144524179_144690846	144531191	A A	AGAGCAGC others(829): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACACAGCAGGCACGG CAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACAT AGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGAC ATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTG GGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAG CAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACAGCAGAAAGGCAGCG AGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAG CAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGG CAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAG CAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGC TAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGG	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0101 a0001c0015t0001g0101	1	246	0.0041	836	c.298 others(853): Show c.2981-321_2981-320insCCTGCCCTGTGCCCTTCTGCCGTGCCTG CTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTG CCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGT GCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCG CTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACC TGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCA CCTGCTGCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCC CACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAG CCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCT AGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCTGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGT GCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCT GTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGC CCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCT GCCTTTCTGCCGTGCCTGCTGTGTCCAGTCCACACCCCACCTGCTGCTCC CTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACC TGCTGCTC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144531191	A A	AGAGCAGC others(829): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC AGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGG GCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACAC AGCAGGCACGGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGAC ATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTG GGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAG CAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACAGCAGAAAGGCAGCG AGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAG CAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGG CAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAG CAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGC TAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGG	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02738.hp1 HG01981.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0093 a0001c0002t0001g0216 a0001c0002t0001g0093 a0001c0002t0001g0216	2	246	0.0081	836	c.298 others(853): Show c.2981-321_2981-320insCCTGCCCTGTGCCCTTCTGCCGTGCCTG CTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTG CCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGT GCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCG CTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACC TGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCA CCTGCTGCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCC CACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAG CCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCT AGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCTGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGT GCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCC GTGCCTGCTGTGTCCAGTCCACACCCCACCTGCTGCTCCCTGCCCTGTGC CCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCT GCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTG CTGCTCGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACC TGCTGCTC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
ARHGEF16_chr1_3449665_3486113	3477303	G G	GTCACCCC others(829): Show GTCACCCCCACACTACCCACCCCCATCACCCCACAACCCACCCCCATCAC CCCACACTACCCACCCCCATCACCCCACACTACCCACCCCATCACCCCCA CACTACCCACCCCCATCACCCCCACACTACCCACCCCATCACCCCACACT ACCCATCCCCATCACCCCCACACTACCCACCCCCATCACCCCACACTACC CACCCCATCACCCCCACACTACCCACCCCCATCACCCTCACTACCCATCA CCCGCACACTACCCACCCCCATCACCCCCACACTACCCACCCCATCACCC CACACTACCCATCCCCATCACCCCCACACTACCCACCCCCATCACCCCAC ACTACCCACCCCATCACCCCCACACTACCCACCCCCATCACCCTCACTAC CCATCACCCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCA TCACCCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCATCAC CCCCCACACTACCCACCCCCATCACCCTCACTACCCATCACCCGCACACT ACCCACCCCATCACCCGCACACTACCCACCCCATCACCCGCACACTACCC AGGCCCATCACCCCGCTACCCACCCCATCACCCCCACACTACCCACCCCA TCACCCCCACGCCACCCACCCCATCACCCCCACGCCGCCCACCCCATCAC CCCCCACGCCACCACCCCATCACCCCCACGCCGCCCACCCCCATCACCCC CCACGCCGCCCACCCCCATCACCCCCACGCCGCCCACCCCATCACCCCCA CGCCGCCCACCCCATCACCCCCACGCCGCCCACCCCA	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0002 a0003c0015t0002	a0003c0015t0002g0079 a0003c0015t0002g0079	1	334	0.0030	836	c.147 others(853): Show c.1474-550_1474-549insCATCACCCCACAACCCACCCCCATCACC CCACACTACCCACCCCCATCACCCCACACTACCCACCCCATCACCCCCAC ACTACCCACCCCCATCACCCCCACACTACCCACCCCATCACCCCACACTA CCCATCCCCATCACCCCCACACTACCCACCCCCATCACCCCACACTACCC ACCCCATCACCCCCACACTACCCACCCCCATCACCCTCACTACCCATCAC CCGCACACTACCCACCCCCATCACCCCCACACTACCCACCCCATCACCCC ACACTACCCATCCCCATCACCCCCACACTACCCACCCCCATCACCCCACA CTACCCACCCCATCACCCCCACACTACCCACCCCCATCACCCTCACTACC CATCACCCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCAT CACCCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCATCACC CCCCACACTACCCACCCCCATCACCCTCACTACCCATCACCCGCACACTA CCCACCCCATCACCCGCACACTACCCACCCCATCACCCGCACACTACCCA GGCCCATCACCCCGCTACCCACCCCATCACCCCCACACTACCCACCCCAT CACCCCCACGCCACCCACCCCATCACCCCCACGCCGCCCACCCCATCACC CCCCACGCCACCACCCCATCACCCCCACGCCGCCCACCCCCATCACCCCC CACGCCGCCCACCCCCATCACCCCCACGCCGCCCACCCCATCACCCCCAC GCCGCCCACCCCATCACCCCCACGCCGCCCACCCCATCACCCCCACACTA CCCACCCC	ARHGEF16	ENSG00000130762.15	transcript	ENST00000378378.9	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
ASAP2_chr2_9201812_9410678	9406031	G G	GTGTCACT others(829): Show GTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAAT GTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCC TTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCT CAGGCCTTCAATGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGT CTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACA TCTCGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGA CATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCT CTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGT GGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCA CTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGT TTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGT GTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCC TTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCT CAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGT CTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACA TCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCT GTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0180 a0002c0005t0001g0180	1	210	0.0048	836	c.27 others(847): Show c.2704_*2705insTGTCACTGAGTGGACCTCTGTGACATCTCGTCTT CCTCAGGCCTTCAATGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCT AGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTG ACATCTCGTCTTCCTCAGGCCTTCAATGTGTGTTTGTCACTGAGTGGACC TCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAG TGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTCACTG AGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTG TCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTG TGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTC AGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAG GCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTT CCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCT AGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTG ACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACC TCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAG TGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTC ACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTG TT	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding		354		chr2	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCGGCCC others(829): Show TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAG AGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCC AGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCC GACGCGTGCAGCCCCCACCCCGCAGCCCTGTCCAGGCCCCGACGCGTGCA GCCTCCTGGCAGAGCCAGCCCCGTCCGGGCCCCGACGCGTGCAGCCTCCT GGCAGAGCCAGCCCCGTCCGGGCCCCGACGCGTGCAGCCTCCTGGCAGAG CCAGCCCCGTCCGGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCC CGTCCGGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCGG GCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCGGGCCCCGA CGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCGGGCCCCGACGCGTGC AGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0008 a0001c0004t0001g0008	1	391	0.0026	836	c.36 others(847): Show c.3604_*3605insGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCT CCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCA GAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAG CCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCTGTCCAG GCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCGGGCCCCGA CGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCGGGCCCCGACGCGTGC AGCCTCCTGGCAGAGCCAGCCCCGTCCGGGCCCCGACGCGTGCAGCCTCC TGGCAGAGCCAGCCCCGTCCGGGCCCCGACGCGTGCAGCCTCCTGGCAGA GCCAGCCCCGTCCGGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCC CCGTCCGGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCG GGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCG AC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCGGCCC others(829): Show TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	391	0.0026	836	c.36 others(847): Show c.3604_*3605insGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG AC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
C10orf67_chr10_23197696_23349797	23331550	G G	GGAAGGGA others(829): Show GGAAGGGAACCGGGACGGGAAAAGGGAAGGGAAGGGAACCGGGACGGGAA AAGGGAAGGGAAGGGAACCGGGACGGGAAAAGGGAAGGGAAGGGAACCGG GACGGGAAAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAACCAGGACAGGAACCGGGACAGGAACCGGGAAGGGAAGGGA TGGGAACCGATGGGAACCGGGATGGCAACCAGGAAGGGAAGGGACCGGGA CGGGAAGGGAAGGAAACCGGGACGGCAACAGAGACAGGAACCGGGAAGGG AAAAGAAGGGAAGAGAACCGGGAAGGGAAGGGAACCGGGACAGGAACCGG GAAGGGAAGGGAAGAGAACAGGGAAGGGAGGGTAGGGGAGGGAAACCGGG AAGGAAGAGGAAGGGGAGGGGAGACCGGGACGGGAACTGGGACGGAAGGG TAGGGAACCGGGCGGGAACCGGGACGGGAGGGGAAGGGAATGGGGACGAG AAACGGGACGGGAACCAGGACAGGAACCAGAACGGAAACAGGGAAGGGAA GGGAAGGGAACAGGGACAGGAATCGGGAAGGGAACCGGGACAGGAACCGG AAAGGGAAGGGAACCAGGAAAGGAAAGGAAGGCAAGCGGGACGGGAGCCG GGAAGGCAAGAGAAGGGAACCGGGAAGAGTAAGGAGGAAAACCGGGACGG GAACAGGACGGGAACCGGGAAGGGCAGGGAACCGGGACAGGAACAGGACG GGAACCGGGAAGGGCAGGGAACCGGGACAGGAACAGGACGGGAACCGGGA AGGGCAGGGAACCGGCACAGGAAGGAAAGGGAACCGA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0211 a0001c0001t0002g0211	1	326	0.0031	836	c.327 others(853): Show c.327+1511_327+1512insTCGGTTCCCTTTCCTTCCTGTGCCGGTT CCCTGCCCTTCCCGGTTCCCGTCCTGTTCCTGTCCCGGTTCCCTGCCCTT CCCGGTTCCCGTCCTGTTCCTGTCCCGGTTCCCTGCCCTTCCCGGTTCCC GTCCTGTTCCCGTCCCGGTTTTCCTCCTTACTCTTCCCGGTTCCCTTCTC TTGCCTTCCCGGCTCCCGTCCCGCTTGCCTTCCTTTCCTTTCCTGGTTCC CTTCCCTTTCCGGTTCCTGTCCCGGTTCCCTTCCCGATTCCTGTCCCTGT TCCCTTCCCTTCCCTTCCCTGTTTCCGTTCTGGTTCCTGTCCTGGTTCCC GTCCCGTTTCTCGTCCCCATTCCCTTCCCCTCCCGTCCCGGTTCCCGCCC GGTTCCCTACCCTTCCGTCCCAGTTCCCGTCCCGGTCTCCCCTCCCCTTC CTCTTCCTTCCCGGTTTCCCTCCCCTACCCTCCCTTCCCTGTTCTCTTCC CTTCCCTTCCCGGTTCCTGTCCCGGTTCCCTTCCCTTCCCGGTTCTCTTC CCTTCTTTTCCCTTCCCGGTTCCTGTCTCTGTTGCCGTCCCGGTTTCCTT CCCTTCCCGTCCCGGTCCCTTCCCTTCCTGGTTGCCATCCCGGTTCCCAT CGGTTCCCATCCCTTCCCTTCCCGGTTCCTGTCCCGGTTCCTGTCCTGGT TCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCT TTTCCCGTCCCGGTTCCCTTCCCTTCCCTTTTCCCGTCCCGGTTCCCTTC CCTTCCCTTTTCCCGTCCCGGTTCCCTTCCCTTCCCTTTTCCCGTCCCGG TTCCCTTC	C10orf67	ENSG00000179133.15	transcript	ENST00000636213.3	protein_coding	2/15			chr10	TogoVar
C8orf82_chr8_144520733_144534111	144531191	A A	AGAGCAGC others(829): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACACAGCAGGCACGG CAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACAT AGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGAC ATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTG GGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAG CAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACAGCAGAAAGGCAGCG AGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAG CAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGG CAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAG CAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGC TAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 NA18971.hp1 HG00621.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0002 a0001c0001t0001g0003	2	398	0.0050	836	c.-22 others(847): Show c.-2276_-2275insCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCC TGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCT GCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCCCACCTG CTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACT CCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCA CTCCCCACCTGCTGCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCC CACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTA TGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGC TATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCTGTGCCT GCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCT GCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTT CTGCCGTGCCTGCTGTGTCCAGTCCACACCCCACCTGCTGCTCCCTGCCC TGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TC	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2081		chr8	TogoVar
C8orf82_chr8_144520733_144534111	144531191	A A	AGAGCAGC others(829): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC AGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGG GCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACAC AGCAGGCACGGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGAC ATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTG GGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAG CAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACAGCAGAAAGGCAGCG AGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAG CAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGG CAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAG CAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGC TAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG02738.hp2 HG01981.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0002 a0001c0001t0001g0007	2	398	0.0050	836	c.-22 others(847): Show c.-2276_-2275insCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCC TGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCT GCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCCCACCTG CTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACT CCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCA CTCCCCACCTGCTGCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCC CACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTA TGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGC TATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCT GCTGTGTCCAGTCCACACCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCT GCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTG TGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTC GCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TC	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2081		chr8	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGGC others(829): Show ATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGC GTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGT CGGCGTGCGTAGGGGCCGGAGGCGTGGTGTGTACGGGGCGGGTGAGTAGA CGGTCGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTGCGTAGGG GCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCGTGCGTAGGG GCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCAT AGGGGCCGAAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGG GCCAGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCAT AGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGG GCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCG GAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCG GAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCG GAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGG CGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGG CGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0239 a0002c0002t0001g0239	1	338	0.0030	836	c.300 others(853): Show c.300-9268_300-9267insAGCGTGCGTAGGGGCCGGAGGCGGGGTA CGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGT GGTGTGTACGGGGCGGGTGAGTAGACGGTCGGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGC GGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGAAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGCGTAGGGGCCAGAGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCAGGTGAGTAGACGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTATG GGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGT GAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGT GAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGT GAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGT AGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGT AGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGT AGACGGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCBE1_chr18_59425939_59702423	59473782	C C	CCCCCACT others(829): Show CCCCCACTACTCACCTTCCAACCTTCCCACTATTTCCTCCCCACTACTCA TCATCCAACCCTCCCACTATTTCCTCCCCTGCTACTCACCTTCCAACCCT ATTTCCTCCCCCACTACTCACCTTCCAACCCTATTTCCTCCCCCACTACT CACCTTCCAACCCTCCCACTATTTCCTCCCCCCACTACTCACCTTCCAAC CTTCCCACTATTTCCCCCCTACTACTCACCTTCCAACCCTCCCACTATTT CCCCCCGACTACTCACCTTCCAACCTTCCCACTATTTCCTCCCCCTACTA CTCACCTTCCAACCCTCCCACTATTTCCTCCCCCACTACTCACCTTCCAA CCCTCCCACTATTTCCTCCCCCCACTACTCACCTTCCAACCTTCCCACTA TTTCCCCCCTACTACTCACCTTCCAACCCTCCCACTATTTCCCCCCGACT ACTCACCATCCAACCCTTCCACTATTTCCCCCCCACTACTCACCATCCAA CCCTCCCACTATGTCCTCTCCCACTACTCACCTTCCAACCCTCCTATTCC CCCCACTACTACTCACCATCCAACCCTCCCAGTACTCACCTTCCAACCCT CCCACTATCCCCCCCTACTACTCACCTTCCAACCCTTCCACTATTTCCCC ACTACTACTCACCTTCCAACCCTCCCACTATTTCCTCCCTCCAACTACTC ACCTTCCAACCCTCCTACTATTCCCCCGCTACTACTCACCTTCCAACCCT CCCACTATTCCCCCACTACTGCCCACCTTCCAACCCTCCCACTATTCCCC CGCTACTACCTACCTTCCAACCCTCCCACTATTTCCT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0062 a0001c0001t0019g0062	1	242	0.0041	836	c.266 others(853): Show c.266-4176_266-4175insAGGAAATAGTGGGAGGGTTGGAAGGTAG GTAGTAGCGGGGGAATAGTGGGAGGGTTGGAAGGTGGGCAGTAGTGGGGG AATAGTGGGAGGGTTGGAAGGTGAGTAGTAGCGGGGGAATAGTAGGAGGG TTGGAAGGTGAGTAGTTGGAGGGAGGAAATAGTGGGAGGGTTGGAAGGTG AGTAGTAGTGGGGAAATAGTGGAAGGGTTGGAAGGTGAGTAGTAGGGGGG GATAGTGGGAGGGTTGGAAGGTGAGTACTGGGAGGGTTGGATGGTGAGTA GTAGTGGGGGGAATAGGAGGGTTGGAAGGTGAGTAGTGGGAGAGGACATA GTGGGAGGGTTGGATGGTGAGTAGTGGGGGGGAAATAGTGGAAGGGTTGG ATGGTGAGTAGTCGGGGGGAAATAGTGGGAGGGTTGGAAGGTGAGTAGTA GGGGGGAAATAGTGGGAAGGTTGGAAGGTGAGTAGTGGGGGGAGGAAATA GTGGGAGGGTTGGAAGGTGAGTAGTGGGGGAGGAAATAGTGGGAGGGTTG GAAGGTGAGTAGTAGGGGGAGGAAATAGTGGGAAGGTTGGAAGGTGAGTA GTCGGGGGGAAATAGTGGGAGGGTTGGAAGGTGAGTAGTAGGGGGGAAAT AGTGGGAAGGTTGGAAGGTGAGTAGTGGGGGGAGGAAATAGTGGGAGGGT TGGAAGGTGAGTAGTGGGGGAGGAAATAGGGTTGGAAGGTGAGTAGTGGG GGAGGAAATAGGGTTGGAAGGTGAGTAGCAGGGGAGGAAATAGTGGGAGG GTTGGATGATGAGTAGTGGGGAGGAAATAGTGGGAAGGTTGGAAGGTGAG TAGTGGGG	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	3/10			chr18	TogoVar
CCBE1_chr18_59425939_59702423	59473808	C C	CACTATTT others(829): Show CACTATTTCCTCCCCTGCTACTCACCTTCCAACCCTATTTCCTCCCCCAC TACTCACCTTCCAACCCTATTTCCTCCCCCACTACTCACCTTCCAACCCT CCCACTATTTCCTCCCCCCACTACTCACCTTCCAACCTTCCCACTATTTC CCCCCTACTACTCACCTTCCAACCCTCCCACTATTTCCCCCCGACTACTC ACCTTCCAACCTTCCCACTATTTCCTCCCCCTACTACTCACCTTCCAACC CTCCCACTATTTCCTCCCCCACTACTCACCTTCCAACCCTCCCACTATTT CCTCCCCCACTACTCACCTTCCAACCCTCCCACTATTTCCTCCCCCCACT ACTCACCTTCCAACCTTCCCACTATTTCCCCCCTACTACTCACCTTCCAA CCCTCCCACTATTTCCCCCCGACTACTCACCATCCAACCCTTCCACTATT TCCCCCCCACTACTCACCATCCAACCCTCCCACTATGTCCTCTCCCACTA CTCACCTTCCAACCCTCCTATTCCCCCCACTACTACTCACCATCCAACCC TCCCAGTACTCACCTTCCAACCCTCCCACTATTCCCCCCTACTACTCACC TTCCAACCCTTCCACTATTTCCCCACTACTACTCACCTTCCAACCCTCCC ACTATTTCCTCCCTCCAACTACTCACCTTCCAACCCTCCTACTATTCCCC CGCTACTACTCACCTTCCAACCCTCCCACTATTCCCCCACTACTGCCCAC CTTCCAACCCTCCCACTATTCCCCCGCTACTACCTACCTTCCAACCCTCC CACTATTTCCTCCCACCACTCACCTTCCAACCCTCCT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01243.hp2 HG00738.hp1 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0161 a0001c0001t0002g0037 a0001c0001t0002g0161	2	242	0.0083	836	c.266 others(853): Show c.266-4202_266-4201insAGGAGGGTTGGAAGGTGAGTGGTGGGAG GAAATAGTGGGAGGGTTGGAAGGTAGGTAGTAGCGGGGGAATAGTGGGAG GGTTGGAAGGTGGGCAGTAGTGGGGGAATAGTGGGAGGGTTGGAAGGTGA GTAGTAGCGGGGGAATAGTAGGAGGGTTGGAAGGTGAGTAGTTGGAGGGA GGAAATAGTGGGAGGGTTGGAAGGTGAGTAGTAGTGGGGAAATAGTGGAA GGGTTGGAAGGTGAGTAGTAGGGGGGAATAGTGGGAGGGTTGGAAGGTGA GTACTGGGAGGGTTGGATGGTGAGTAGTAGTGGGGGGAATAGGAGGGTTG GAAGGTGAGTAGTGGGAGAGGACATAGTGGGAGGGTTGGATGGTGAGTAG TGGGGGGGAAATAGTGGAAGGGTTGGATGGTGAGTAGTCGGGGGGAAATA GTGGGAGGGTTGGAAGGTGAGTAGTAGGGGGGAAATAGTGGGAAGGTTGG AAGGTGAGTAGTGGGGGGAGGAAATAGTGGGAGGGTTGGAAGGTGAGTAG TGGGGGAGGAAATAGTGGGAGGGTTGGAAGGTGAGTAGTGGGGGAGGAAA TAGTGGGAGGGTTGGAAGGTGAGTAGTAGGGGGAGGAAATAGTGGGAAGG TTGGAAGGTGAGTAGTCGGGGGGAAATAGTGGGAGGGTTGGAAGGTGAGT AGTAGGGGGGAAATAGTGGGAAGGTTGGAAGGTGAGTAGTGGGGGGAGGA AATAGTGGGAGGGTTGGAAGGTGAGTAGTGGGGGAGGAAATAGGGTTGGA AGGTGAGTAGTGGGGGAGGAAATAGGGTTGGAAGGTGAGTAGCAGGGGAG GAAATAGT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	3/10			chr18	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(829): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTT TTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0055 a0001c0009t0055	a0001c0009t0055g0304 a0001c0009t0055g0304	1	336	0.0030	836	c.248 others(853): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTT TTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA GTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(829): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTT TTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0191 a0001c0001t0004g0191	1	336	0.0030	836	c.248 others(853): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA GTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CFAP61_chr20_20047532_20365698	20357454	G G	GAGGGGAG others(829): Show GAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGT GGTCACAGTGTGAGGGGAGATGGTCACACTGAGGGGAGGTGGTCACAGTG TGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGG TGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGT GAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGAT GGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTG AGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTG GTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGA GGGGAGGTGGTCACACTGAGAGGAGGTGGTCACACTGAGGGGAGGTGGTC ATACTGTGAGTGAGGAGGTAGTCACACTGAGGGGAAGTGGTCACACTGAG GGGAGGTGGTCACACTGAGGGGAGGTGGTCATACTGTGAGTGAGGAGGTA GTCACACTGAGGGGAGGGGGTCATACTGCGAGTGGAGGTAGTCACACTGT GAAGGGTGGTAGTCACACTGAGAGGAGGTGGTCACACTGAGGGGAAGTGG TCACACTGAGGGGAGGTGGTCATACTGTGAGGGGAAGTGGTCACACTGAG GGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGT CACACTGTGAGGGGAGGTGGTCACACTGAGAGGAGGTGGTCACACTGAGG GGAGGTGGTCATACTGTGAGTGAGGAGGTAGTCACAC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0055 a0004c0008t0001g0055	1	236	0.0042	836	c.351 others(855): Show c.3514-2756_3514-2755insAGGGGAGGTGGTCACAGTGTGAGGGG AGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGATGGTCAC ACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGA GGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACA CTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAG GTGGTCACAGTGTGAGGGGAGATGGTCACACTGAGGGGAGGTGGTCACAG TGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGA GGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGT GTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGAGGAGGT GGTCACACTGAGGGGAGGTGGTCATACTGTGAGTGAGGAGGTAGTCACAC TGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTG GTCATACTGTGAGTGAGGAGGTAGTCACACTGAGGGGAGGGGGTCATACT GCGAGTGGAGGTAGTCACACTGTGAAGGGTGGTAGTCACACTGAGAGGAG GTGGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATACTG TGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGG TGGTCACACTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACACT GAGAGGAGGTGGTCACACTGAGGGGAGGTGGTCATACTGTGAGTGAGGAG GTAGTCACAC	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26			chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGTGG others(829): Show GGGAGTGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGG GAGGGGGGAGGAGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAG GGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGG GGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGG AGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGA GGGGAGCTGGGGAGGGGGGAGGAGGGGAGCTGGGGAGGGGGGAGGAGGGG GAGCTGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGAGGGGAGC AGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAG GGGAGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCTGGGGAG GGGGGAGGAGGGGGAGCAGGGGAGGGGAGGAGGGGGAGCAGGGGAGGGGG GAGGAGGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGG AGCTGGGGAGGAGGAGGAGGGGAGCAGGGGAGGGGGAGGAGGGGGAGCAG GGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGG GAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGA GGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGAGGGGGAGCTGGGGAGGA GGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGG GGGAGCAGGGGAGGGGGGAGAAGAGGAGGGGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0128 a0001c0001t0014g0128	1	168	0.0060	836	c.-26 others(845): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCCCTGCTCC CCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCC CTCCTCCCCAGCTCCCCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCC CTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCT CCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCC CCTGCTCCCCCTCCTCCCCCTCCCCTGCTCCCCTCCTCCTCCTCCCCAGC TCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCCTCCT CCCCCCTCCCCTGCTCCCCCTCCTCCCCTCCCCTGCTCCCCCTCCTCCCC CCTCCCCAGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCTCC CCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCC TGCTCCCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCAGCT CCCCCTCCTCCCCCCTCCCCAGCTCCCCTCCTCCCCCCTCCCCAGCTCCC CTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCTCC TCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTC CCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCC CCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCTCCTCCCCCCT CCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCACTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(829): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCCTTCCTCCC CCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCC CCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTC CCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCC TCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCCCCCTC TTCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCT CTCCCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCC TCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTC CTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0168 a0001c0003t0001g0168	1	270	0.0037	836	c.162 others(857): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTC CTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTT CCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCT TCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCC TTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTT CCTCTTCCTCCCCCTCCCCCTCTTCCTCTTCCTCCTCCTCCCCCTCTTCC TCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCTTCCTCCTCCTC TTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTT CCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCC CCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNTNAP4_chr16_76272401_76565757	76359477	A A	ACTTCTTT others(829): Show ACTTCTTTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTAC ATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGG TGCACTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATG CTATCCCTCCCCCCTCCCCCCACCCCACCACAGTCCCCAGAGTGTGATAT TCCCCTTCCTGTGGCCATGTGATCTCATTGTTCAATTCCCACCTATGAGT GAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAAT GATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCAT TTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTA ATCCAGTCTATCATTGTTGGGCATTTGGGTTGGTTCCAAGTCTTTGCTAT TGTGAATAGTGCTGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGC ATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCA AATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCA CAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTA TTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATT GCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGATTTGCAT TTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTTTGGCTG CATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03209.hp1 HG03540.hp2 HG01884.hp1 HG03209.hp1 HG03540.hp2	a0002 a0003 a0002 a0003	a0002c0012 a0003c0003 a0003c0006 a0002c0012 a0003c0003 a0003c0006	a0002c0012t0002 a0003c0003t0027 a0003c0006t0006 a0002c0012t0002 a0003c0003t0027 a0003c0006t0006	a0002c0012t0002g0048 a0003c0003t0027g0237 a0003c0006t0006g0205 a0002c0012t0002g0048 a0003c0003t0027g0237 a0003c0006t0006g0205	3	274	0.0110	836	c.390 others(853): Show c.390+3971_390+3972insTTTTTTTTTTTTTTTTTTTTATTATACT CTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTAT ACATGTGCCATGCTGGTGCACTGCACCCACTAATGTGTCATCTAGCATTA GGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCCACCCCACCACAGT CCCCAGAGTGTGATATTCCCCTTCCTGTGGCCATGTGATCTCATTGTTCA ATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCG ATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAG GATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATAT GTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGGCATTTGGGTTGGT TCCAAGTCTTTGCTATTGTGAATAGTGCTGCAATAAACATACGTGTGCAT GTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAA TGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATC GCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAG TGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCC TGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAG TGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTC ATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCAT GTCCTTCT	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
COL5A1_chr9_134636803_134849843	134685430	C C	CCATCCAT others(829): Show CCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCATCCACCAT CCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCATCCAT CCATCCATTCATCCATCCATCATCCTCCCATTCATCCATCCATCCACCAT CCATCCATTCATTCATCCATCCATCCATCCGTCCATCCATCCATCCATGC ATCTGTCATCCATCCACCATCCATCCATTCATTCATCCATCCATCTGTCC ATCCATCCATCCATCCATCCATCCATCCACCATCCATTCACCCATCCATC CATTCATCCATCCATCCACCATCCATCCATTAATTCATCCATCCATCCAT CCATCCATCCACCATCCATCCATCCACCATCCATCCATTCATCCATCCAT CTGTCCATCCATCCATCCATCCGTCCATCCACCATCCATTCACCCATCCA TCCATTCCTCCATCCATCCACCATCCATCCATTAATTCATCCATCCATCC ATCCATCCATTCATCCATCCACCATCCATCCATCCATCCACCATCCATCC ATCCACCATCCATCCATTCATACATCCATCATCCTCCCATTCATCCATCC ATCCACCATCCATCCATTCATTCATCCATCCATCCATCCATCCATCCATC CATCCACCATCCATCCACCCATCCATCCACCATCCATCCATCCAGCATCC ATCCATCCATCTATTCATCCATCCATCCATCCATCCGTCCATCCATCCAT CCATCCTCCATCCATCCATCCATCCATCAACCATCCATCCATGCATCCAT TCATCCATCCACCATCCATCCACCATCCATCCACCAT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0198 a0001c0009t0001g0198	1	272	0.0037	836	c.110 others(853): Show c.110-5470_110-5469insCATCCATCCACCATCCATCCATCCATCC ATCCACCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCA TTCATCCATCCATCCATTCATCCATCCATCATCCTCCCATTCATCCATCC ATCCACCATCCATCCATTCATTCATCCATCCATCCATCCGTCCATCCATC CATCCATGCATCTGTCATCCATCCACCATCCATCCATTCATTCATCCATC CATCTGTCCATCCATCCATCCATCCATCCATCCATCCACCATCCATTCAC CCATCCATCCATTCATCCATCCATCCACCATCCATCCATTAATTCATCCA TCCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCA TCCATCCATCTGTCCATCCATCCATCCATCCGTCCATCCACCATCCATTC ACCCATCCATCCATTCCTCCATCCATCCACCATCCATCCATTAATTCATC CATCCATCCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCAC CATCCATCCATCCACCATCCATCCATTCATACATCCATCATCCTCCCATT CATCCATCCATCCACCATCCATCCATTCATTCATCCATCCATCCATCCAT CCATCCATCCATCCACCATCCATCCACCCATCCATCCACCATCCATCCAT CCAGCATCCATCCATCCATCTATTCATCCATCCATCCATCCATCCGTCCA TCCATCCATCCATCCTCCATCCATCCATCCATCCATCAACCATCCATCCA TGCATCCATTCATCCATCCACCATCCATCCACCATCCATCCACCATCATC CATCCATT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar

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Search Results (Total: 7053 hits)